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GTR Home > Tests > Holoprosencephaly 5, 609637, Autosomal dominant; HPE5 (Holoprosencephaly) (MLPA)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Holoprosencephaly associated with mutations in the ZIC2 gene. [from NCI]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hydrocephalus
  • Hypertelorism
  • Seizure
  • Holoprosencephaly sequence
  • Macrotia
  • High forehead
  • High palate
  • Trigonocephaly
  • Upslanted palpebral fissure
  • Abnormal facial shape
  • Hypotelorism
  • Lobar holoprosencephaly
  • Alobar holoprosencephaly
  • Synophrys
  • Global developmental delay
  • Central diabetes insipidus
  • Semilobar holoprosencephaly
  • Depressed nasal bridge
  • Narrow forehead
  • Deep philtrum
  • Anteverted nares
  • Broad forehead
  • Lateral ventricle dilatation
  • Sloping forehead
  • Orofacial cleft
  • Intellectual disability
  • Microcephaly
  • Syntelencephaly
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Conditions tested

Target population

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Holoprosencephaly 5, 609637, Autosomal dominant; HPE5 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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